Epidermal nevus syndromes encompass a highly heterogeneous group of systemic
disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular,
and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS)
constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23
cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here,
we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old
female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum
phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of
42 months revealed significant improvement of linear growth and gross physical functions,
including respiratory insufficiency. Radiographic rickets severity as well as subjective bone
pain were strongly reduced, and no side effects were observed over the course of
treatment. In summary, we, here, report about a successful treatment of
hypophosphatemic rickets in CSHS with burosumab over the time course of 42
months. In our patient, burosumab showed convincing efficacy and safety profile,
without any loss of effect or increase of dose.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:85821 |
| Date | 06 June 2023 |
| Creators | Merz, Lea Maria, Bürger, Florian, Ziegelasch, Niels, Zenker, Martin, Wieland, Ilse, Lipek, Tobias, Wallborn, Tillmann, Terliesner, Nicolas, Prenzel, Freerk, Siekmeyer, Manuela, Dittrich, Katalin |
| Publisher | Frontiers Media S.A. |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 866831 |
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